Screening of Male Dialysis Patients for Fabry Disease by Plasma Globotriaosylsphingosine | Zendy

Hiroki Maruyama | Zendy; Takuma Takata | Zendy; Yutaka Tsubata | Zendy; Ryushi Tazawa | Zendy; Kiyoe Goto | Zendy; Jun Tohyama | Zendy; Ichiei Narita | Zendy; Hidekatsu Yoshioka | Zendy; Seiichi Ishii | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Screening of Male Dialysis Patients for Fabry Disease by Plasma Globotriaosylsphingosine

Author(s) -

Hiroki Maruyama,

Takuma Takata,

Yutaka Tsubata,

Ryushi Tazawa,

Kiyoe Goto,

Jun Tohyama,

Ichiei Narita,

Hidekatsu Yoshioka,

Seiichi Ishii

Publication year - 2013

Publication title -

clinical journal of the american society of nephrology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.755

H-Index - 151

eISSN - 1555-905X

pISSN - 1555-9041

DOI - 10.2215/cjn.08780812

Subject(s) - fabry disease , medicine , genetic testing , enzyme replacement therapy , dialysis , alpha galactosidase , disease , genetic counseling , gastroenterology , genetics , biology

Previous reports of Fabry disease screening in dialysis patients indicate that α-galactosidase A activity alone cannot specifically and reliably identify appropriate candidates for genetic testing; a marker for secondary screening is required. Elevated plasma globotriaosylsphingosine is reported to be a hallmark of classic Fabry disease. The purpose of this study was to examine the usefulness of globotriaosylsphingosine as a secondary screening target for Fabry disease.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research